Variant report

Variant	rs1990364
Chromosome Location	chr7:16168925-16168926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16163332..16166682-chr7:16168579..16171460,3	K562	blood:
2	chr5:118549863..118550376-chr7:16168238..16169156,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10227232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252227	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10277151	0.80[EUR][1000 genomes]
rs11760717	0.82[EUR][1000 genomes]
rs12537888	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405591	0.80[EUR][1000 genomes]
rs1527205	0.82[EUR][1000 genomes]
rs1527215	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1852476	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1881242	0.82[EUR][1000 genomes]
rs4721475	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66933521	0.80[EUR][1000 genomes]
rs6943936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968537	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1846736	chr7:16168502-16173482	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844385	chr7:16168502-16211553	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv511373	chr7:16168708-16182966	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1990364	DGKB	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16158200-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:16163400-16169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16165000-16169800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16167800-16170400	Weak transcription	Left Ventricle	heart
5	chr7:16168200-16169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:16168200-16170800	Enhancers	HSMM	muscle
7	chr7:16168400-16169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:16168400-16170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:16168600-16169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:16168600-16169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:16168600-16169600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:16168600-16170000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr7:16168600-16170600	Enhancers	HMEC	breast
14	chr7:16168600-16171000	Enhancers	HUVEC	blood vessel
15	chr7:16168800-16169000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:16168800-16169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:16168800-16169200	Flanking Active TSS	NH-A	brain
18	chr7:16168800-16169600	Flanking Active TSS	NHDF-Ad	bronchial
19	chr7:16168800-16169800	Flanking Active TSS	HSMMtube	muscle
20	chr7:16168800-16169800	Enhancers	NHEK	skin
21	chr7:16168800-16170000	Flanking Active TSS	Osteobl	bone
22	chr7:16168800-16170600	Enhancers	NHLF	lung
23	chr7:16168800-16170800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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